File:PMC5418833 ddw351f7.png

License

Attribution-NonCommercial 4.0 International (CC BY-NC 4.0)

Summary

Author:Ahmed S. Warda, Bernard Freytag, Sara Haag, Katherine E. Sloan, Dirk Görlich, and Markus T. Bohnsack,Institute for Molecular Biology, Georg-August University,Max Planck Institute for Biophysical Chemistry,Göttingen Center for Molecular Biosciences, Georg-August-University(Openi/National Library of Medicine) Source:https://openi.nlm.nih.gov/detailedresult?img=PMC5418833_ddw351f7&query=Bowen-Conradi%20syndrome&it=xg&req=4&npos=1 Description:ddw351-F7: EMG1 in Bowen-Conradi syndrome. The Impβ/7 dimer binds to EMG1 in the cytoplasm and acts as a chaperone during nuclear import of EMG1. EMG1 is then recruited by a subcomplex containing NOP14, NOC4L and UTP14a to the nucleolus where is fulfils its essential functions in the biogenesis of the small ribosomal subunit. In Bowen-Conradi syndrome, EMG1D86G is chaperoned into the nucleus by Impβ/7, where it accumulates in nuclear speckles leading to proteasome-dependent protein degradation. Only a fraction of EMG1D86G can be recruited to the nucleolus and the decreased pre-ribosomal levels of EMG1D86G lead to defects in small ribosomal subunit maturation.